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Topic: Brca 2 unknown variant

Forum: Genetic Testing —

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, and mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM)

Posted on: Jul 4, 2021 07:13PM

28pregnantandscared wrote:

I just got my genetic testing result back. I currently have triple positive breast cancer at the age of 28.

The result came back saying this result is unable to confirm a genetic contribution to the cancer observed in this family. However, a variant of uncertain significance was detected in the brca 2 gene.

Has anyone had this? What happened next? Was it recommended to you to do a DMX or hysterectomy?


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Jul 5, 2021 03:04PM hnsquared wrote:

28pregnantand scared….hello. First let me say I’m so sorry you are here with us and especially at such a young age. So first….if you had genetic testing done then you should have access to speak with a genetic counselor. I highly recommend you ask your nurse navigator, breast surgeon or whoever recommended genetic testing. You don’t have your information filled in so I’m assuming you have been diagnosed with breast cancer and that’s what has brought you here.

The reason you need to speak to a genetics counselor is they will go over your testing information and explain it in great detail. I can’t do that for you. What I do know is sometimes there is a variant of the brca 1 or 2 gene and they don’t know at this time if it is significant to breast cancer. That is what it sounds like your report says.It used to be testing was for brca 1 and 2. Over time there are now many other variants that raise risk and most panels check for all of those. Sometimes there is a variant and there just isn’t enough data yet to know.

Don’t panic. I found out I have a genetic mutation PALB2 which raises my risk for breast cancer, slightly higher for pancreatic cancer and ovarian cancer. The counselor was able to explain it in detail and then I had decisions to make. Even without a genetic predisposition….once you get diagnosed with breast cancer there are tons of decisions to make.

I hope this has helped a little.

Dx 2/20/2020, IDC, Left, Stage IB, Grade 2, ER+/PR+, HER2- Chemotherapy 4/1/2020 AC + T (Taxol) Surgery 9/21/2020 Mastectomy: Left, Right; Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant Radiation Therapy 11/11/2020 Whole-breast: Breast, Lymph nodes, Chest wall Targeted Therapy Herceptin (trastuzumab)
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Jul 5, 2021 03:20PM cgifford7 wrote:

From what I was told by the person who went over my genetic testing results, a variant of unknown significance is treated as a negative result. It means they just do not know yet if that particular mutation has any effect. There can be mutations in parts of the DNA that encode non-functional parts of the protein and do not effect it's function. That being said, I do not know if they treat variants of unknown significance differently in the BRCA gene, which is why you really should talk to a genetic counselor who can help you figure this out.

Dx 5/12/2021, DCIS, Right, 5cm, Stage 0, Grade 3, 0/1 nodes, ER+/PR+ Surgery 7/6/2021 Mastectomy: Right; Prophylactic mastectomy: Left; Reconstruction (left); Reconstruction (right)
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Jul 6, 2021 10:04PM star2017 wrote:

Just popping in to wish you well. I was pregnant when first diagnosed too. Hope you get the clarity and support you need to feel better.

Dx@37, pregnant, BRCA2+ Dx 9/2017, DCIS/IDC, Right, 6cm+, Stage IIIA, Grade 3, 4/8 nodes, ER+/PR+, HER2- Surgery 10/17/2017 Mastectomy: Right; Reconstruction (right): Tissue expander placement Chemotherapy 11/29/2017 AC + T (Taxol) Surgery 4/18/2018 Prophylactic mastectomy: Left; Reconstruction (left): Tissue expander placement; Reconstruction (right): Silicone implant Radiation Therapy 5/21/2018 Whole-breast: Breast, Lymph nodes Surgery 10/24/2018 Prophylactic ovary removal; Reconstruction (left): Silicone implant Hormonal Therapy 6/19/2019 Arimidex (anastrozole) Dx 5/2021, IDC, Right, 6cm+, Stage IV, metastasized to bone, ER+/PR+, HER2- Targeted Therapy Verzenio Radiation Therapy External: Bone Hormonal Therapy Faslodex (fulvestrant)

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